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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BAZ1B Gene

protein-coding   GIFtS: 56
GCID: GC07M072854

Bromodomain Adjacent To Zinc Finger Domain, 1B


(Previous symbols: WBSCR9, WBSCR10)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Bromodomain Adjacent To Zinc Finger Domain, 1B1 2     hWALp22 3
WBSCR91 2 3 5     EC 2.7.10.23 8
WBSCR101 2 3     Williams-Beuren Syndrome Chromosome Region 101
WSTF2 3 5     Williams-Beuren Syndrome Chromosome Region 91
Transcription Factor WSTF1 2     Tyrosine-Protein Kinase BAZ1B2
Williams Syndrome Transcription Factor2 3     WBSC103
Williams-Beuren Syndrome Chromosomal Region 10 Protein2 3     Bromodomain Adjacent To Zinc Finger Domain Protein 1B3
Williams-Beuren Syndrome Chromosomal Region 9 Protein2 3     

External Ids:    HGNC: 9611   Entrez Gene: 90312   Ensembl: ENSG000000099547   OMIM: 6056815   UniProtKB: Q9UIG03   

Export aliases for BAZ1B gene to outside databases

Previous GC identifers: GC07M071495 GC07M072253 GC07M072266 GC07M072299 GC07M072492 GC07M068737


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BAZ1B Gene:
This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic
of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren
syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. (provided by RefSeq, Jul
2008)

GeneCards Summary for BAZ1B Gene: 
BAZ1B (bromodomain adjacent to zinc finger domain, 1B) is a protein-coding gene. Diseases associated with BAZ1B include williams-beuren syndrome, and williams syndrome. GO annotations related to this gene include chromatin binding and non-membrane spanning protein tyrosine kinase activity. An important paralog of this gene is BAZ1A.

UniProtKB/Swiss-Prot: BAZ1B_HUMAN, Q9UIG0
Function: Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a
transcription regulator. Involved in DNA damage response by phosphorylating 'Tyr-142' of histone H2AX
(H2AXY142ph). H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between
apoptotic and repair responses to genotoxic stress. Essential component of the WICH complex, a chromatin
remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array
structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA
polymerase III transcription, mediates the histone H2AX phosphorylation at 'Tyr-142', and is involved in the
maintenance of chromatin structures during DNA replication processes. In the complex, it mediates the recruitment
of the WICH complex to replication foci during DNA replication. Also involved in vitamin D-coupled transcription
regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D
receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene. In the
WINAC complex, plays an essential role by targeting the complex to acetylated histones, an essential step for
VDR-promoter association

Gene Wiki entry for BAZ1B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079593.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BAZ1B gene promoter:
         Max1   AP-1   AP-2gamma   Egr-2   HEN1   AP-2beta   AP-2alpha   AP-2alphaA   Hlf   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BAZ1B promoter sequence
   Search SABiosciences Chromatin IP Primers for BAZ1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BAZ1B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

BAZ1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BAZ1B gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M072854:  view genomic region     (about GC identifiers)

Start:
72,854,728 bp from pter      End:
72,936,615 bp from pter
Size:
81,888 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 72,187,800-72,269,687     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BAZ1B_HUMAN, Q9UIG0 (See protein sequence)
Recommended Name: Tyrosine-protein kinase BAZ1B  
Size: 1483 amino acids; 170903 Da
Cofactor: Manganese
Subunit: Interacts with MYO1C (By similarity). Interacts with CDT1. Interacts with SMARCA5/SNF2H; the interaction
is direct and forms the WICH complex. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H,
BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. Component of the WINAC complex, at least composed of
SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and
TOP2B. Interacts with VDR; in a ligand-dependent manner. Interacts with PCNA; the interaction is direct
Subcellular location: Nucleus. Note=Accumulates in pericentromeric heterochromatin during replication. Targeted to
replication foci throughout S phase via its association with PCNA
Developmental stage: Expressed at equal levels in 19-23 weeks old fetal tissues
Sequence caution: Sequence=AAC97879.1; Type=Frameshift; Positions=1031, 1042, 1422; Sequence=AAD04720.1;
Type=Erroneous gene model prediction; Sequence=AAH65029.1; Type=Miscellaneous discrepancy; Note=Contaminating
sequence. Potential poly-A sequence; Sequence=BAA89210.1; Type=Frameshift; Positions=1478;
1 PDB 3D structure from and Proteopedia for BAZ1B:
1F62 (3D)    
Secondary accessions: B9EGK3 D3DXE9 O95039 O95247 O95277 Q6P1K4 Q86UJ6
Alternative splicing: 2 isoforms:  Q9UIG0-1   Q9UIG0-2   

Explore the universe of human proteins at neXtProt for BAZ1B: NX_Q9UIG0

Explore proteomics data for BAZ1B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UIG0

  • 4/6 DME Specific Peptides for BAZ1B (Q9UIG0) (see all 6)
     SELVRLCLR  APWVVEDELVKK  ALCHRILMTYSV  PKFLPHKYDVKL 

    BAZ1B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BAZ1B Protein Expression
    REFSEQ proteins: NP_115784.1  
    ENSEMBL proteins: 
     ENSP00000342434   ENSP00000385442  

    Human Recombinant Protein Products for BAZ1B: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BAZ1B 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000793condensed chromosome IEA--
    GO:0005634nucleus ----
    GO:0005721centromeric heterochromatin IEA--
    GO:0043596colocalizes with nuclear replication fork IDA15543136
    GO:0071778WINAC complex IDA--

    BAZ1B for ontologies           About GeneDecksing



    BAZ1B Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of BAZ1B
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    Cloud-Clone Corp. CLIAs for BAZ1B


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PHF: Zinc fingers, PHD-type

    5/11 InterPro protein domains (see all 11):
     IPR019786 Zinc_finger_PHD-type_CS
     IPR001841 Znf_RING
     IPR001965 Znf_PHD
     IPR018359 Bromodomain_CS
     IPR001487 Bromodomain

    Graphical View of Domain Structure for InterPro Entry Q9UIG0

    ProtoNet protein and cluster: Q9UIG0

    3 Blocks protein domains:
    IPB001487 Bromodomain signature
    IPB001965 Zn-finger-like
    IPB004022 DDT domain


    UniProtKB/Swiss-Prot: BAZ1B_HUMAN, Q9UIG0
    Domain: The N-terminal part (1-345), including the WAC domain and the C motif, mediates the tyrosine-protein
    kinase activity
    Domain: The bromo domain mediates the specific interaction with acetylated histones
    Similarity: Belongs to the WAL family. BAZ1B subfamily
    Similarity: Contains 1 bromo domain
    Similarity: Contains 1 DDT domain
    Similarity: Contains 1 PHD-type zinc finger
    Similarity: Contains 1 WAC domain


    BAZ1B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BAZ1B_HUMAN, Q9UIG0
    Function: Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a
    transcription regulator. Involved in DNA damage response by phosphorylating 'Tyr-142' of histone H2AX
    (H2AXY142ph). H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between
    apoptotic and repair responses to genotoxic stress. Essential component of the WICH complex, a chromatin
    remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array
    structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA
    polymerase III transcription, mediates the histone H2AX phosphorylation at 'Tyr-142', and is involved in the
    maintenance of chromatin structures during DNA replication processes. In the complex, it mediates the recruitment
    of the WICH complex to replication foci during DNA replication. Also involved in vitamin D-coupled transcription
    regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D
    receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene. In the
    WINAC complex, plays an essential role by targeting the complex to acetylated histones, an essential step for
    VDR-promoter association
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate

         Enzyme Number (IUBMB): EC 2.7.10.21 2

         Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IDA16252006
    GO:0004713protein tyrosine kinase activity IDA19092802
    GO:0004715non-membrane spanning protein tyrosine kinase activity IEA--
    GO:0005488binding ----
    GO:0005515protein binding IPI11980720
         
    BAZ1B for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Baz1b):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     embryogenesis  growth/size  homeostasis/metabolism  immune system  mortality/aging 
     muscle  reproductive system  skeleton 

    BAZ1B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Baz1btm1Ska for BAZ1B

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BAZ1B 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BAZ1B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BAZ1B 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BAZ1B 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidBAZ1B 3' UTR sequence
    Inhib. RNA
    Products:
        
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAZ1B


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BAZ1B About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for BAZ1B
        Chromatin Regulation / Acetylation




    BAZ1B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BAZ1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/84 Interacting proteins for BAZ1B (Q9UIG01, 2, 3 ENSP000003424344) via UniProtKB, MINT, STRING, and/or I2D (see all 84)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=1 STRING: ENSP00000352980
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003007heart morphogenesis ISS--
    GO:0006302double-strand break repair ISS--
    GO:0006333chromatin assembly or disassembly ----
    GO:0006337nucleosome disassembly IDA--
    GO:0006338chromatin remodeling ----

    BAZ1B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BAZ1B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BAZ1B

    1 Novoseek inferred chemical compound relationship for BAZ1B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vitamin d 41.9 4 12837248 (2), 19776015 (1), 15225768 (1)

    Search CenterWatch for drugs/clinical trials and news about BAZ1B

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BAZ1B gene (2 alternative transcripts): 
    NM_032408.3  NM_023005.2  

    Unigene Cluster for BAZ1B:

    Bromodomain adjacent to zinc finger domain, 1B
    Hs.743372  [show with all ESTs]
    Unigene Representative Sequence: NM_032408
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339594(uc003tyc.3) ENST00000404251 ENST00000466844
    miRNA
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    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate BAZ1B (see all 28):
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    Additional mRNA sequence: 

    AF072810.1 AF084479.1 AK123564.1 BC041561.1 BC050599.1 BC065029.1 BC080544.1 BC136520.1 

    11 DOTS entries:

    DT.95212824  DT.97847150  DT.95082862  DT.95202836  DT.418510  DT.101961100  DT.95220343  DT.121109456 
    DT.92451680  DT.95220365  DT.95345719 

    24/376 AceView cDNA sequences (see all 376):

    AA971272 AK123274 NM_032408 AA588457 BU615447 BX093970 AI087152 BC065029 
    AA314491 AA872405 BC080544 AI092789 BI963102 BG110411 AI498634 AU280242 
    BU675309 BU632531 BM825047 AI421573 AA307420 BE466747 BM797351 AW995530 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BAZ1B expression in normal human tissues (normalized intensities)      BAZ1B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTTGTGTT
    BAZ1B Expression
    About this image


    BAZ1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/27 selected tissues (see all 27) fully expand
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Uterus
             uterus, pre-menopause ; cells in endometrial stroma   
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             liver ; bile duct cells   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             cd14+ cells   

    See BAZ1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BAZ1B

    SOURCE GeneReport for Unigene cluster: Hs.743372

    UniProtKB/Swiss-Prot: BAZ1B_HUMAN, Q9UIG0
    Tissue specificity: Ubiquitously expressed with high levels of expression in heart, brain, placenta, skeletal
    muscle and ovary

        SABiosciences Expression via Pathway-Focused PCR Arrays including BAZ1B: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BAZ1B
    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BAZ1B gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Baz1b1 , 5 bromodomain adjacent to zinc finger domain, 1B1, 5 87.17(n)1
    91.94(a)1
      5 (75.05 cM)5
    223851  NM_011714.21  NP_035844.21 
     1351872645 
    chicken
    (Gallus gallus)
    Aves BAZ1B1 bromodomain adjacent to zinc finger domain, 1B 75.73(n)
    81.34(a)
      427819  XM_001233716.2  XP_001233717.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3982692 Williams syndrome transcription factor 75.49(n)    AF412333.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.195942 Transcribed sequence with weak similarity to protein more 77.22(n)    AL915593.1 


    ENSEMBL Gene Tree for BAZ1B (if available)
    TreeFam Gene Tree for BAZ1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BAZ1B gene
    BAZ1A2  BPTF2  BAZ2B2  CECR22  BAZ2A2  KAT2A2  KAT2B2  

    BAZ1B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1707 SNPs in BAZ1B are shown (see all 1707)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1468433901,2
    C--72190930(+) AGAGT-/TTCTTTTT 1 -- int10--------
    rs105538231,2
    C--72190932(+) AGAGT-/TTCTTTTT 2 -- int1 cds10--------
    rs756868261,2
    C--72190932(+) AGTTTC/TTTTTT 1 -- int10--------
    rs105579031,2
    C--72192431(+) AAAAA-/ACACACA 1 -- int11Minor allele frequency- AC:0.50CSA 2
    rs731349231,2
    C,F--72192432(+) AAAAAC/AACACA 1 -- int12Minor allele frequency- A:0.50WA CSA 4
    rs582198761,2
    C--72192450(+) ACACA-/CAAAGGC 1 -- int10--------
    rs1126340311,2
    C--72220145(+) AGCTAATTT/-  
            
    ATTTA
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs78064281,2
    C--72220148(+) taattT/Aattta 1 -- int11Minor allele frequency- A:0.50NA 2
    rs2020547611,2
    --72233727(+) ACTAT-/TTTA  
            
    TTTAT
    1 -- int10--------
    rs665274631,2
    C--72854832(-) TTTTT-/TATTGT 1 -- ut313Minor allele frequency- T:0.17NA CSA 6

    HapMap Linkage Disequilibrium report for BAZ1B (72854728 - 72936615 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for BAZ1B:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2677299CNV Deletion23128226
    nsv831027CNV Loss17160897
    dgv7325n71CNV Loss21882294
    dgv7324n71CNV Gain21882294
    nsv888362CNV Gain21882294
    dgv2099e1CNV Complex17122850
    dgv2095e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605681    OMIM disorders: --

    UniProtKB/Swiss-Prot: BAZ1B_HUMAN, Q9UIG0
  • Note=BAZ1B is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a
    hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing
    over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BAZ1B
    may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease

  • 5 diseases for BAZ1B:    About MalaCards
    williams-beuren syndrome    williams syndrome    supravalvular aortic stenosis    hypertriglyceridemia
    coronary heart disease

    1 disease from the University of Copenhagen DISEASES database for BAZ1B:
    Williams-Beuren syndrome

    BAZ1B for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for BAZ1B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    williams syndrome 92.5 19 19470456 (3), 9858827 (2), 12837248 (2), 9828126 (1) (see all 12)

    Genetic Association Database (GAD): BAZ1B
    Human Genome Epidemiology (HuGE) Navigator: BAZ1B (6 documents)

    Export disorders for BAZ1B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BAZ1B gene, integrated from 9 sources (see all 74):
    (articles sorted by number of sources associating them with BAZ1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human gene, WSTF, is deleted in Williams Syndrome. (PubMed id 9828126)1, 2, 3, 9 Lu X.... Keating M.T. (1998)
    2. Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. (PubMed id 9858827)1, 2, 3, 9 Peoples R.J.... Francke U. (1998)
    3. The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription. (PubMed id 16603771)1, 2, 9 Cavellan E....Farrants A.K. (2006)
    4. The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci. (PubMed id 15543136)1, 2, 9 Poot R.A....Varga-Weisz P.D. (2004)
    5. Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption. (PubMed id 21490707)1, 4 Cornelis M.C....Caporaso N.E. (2011)
    6. Genome-wide association study identifies novel loci f or plasma levels of protein C: the ARIC study. (PubMed id 20802025)1, 4 Tang W....Folsom A.R. (2010)
    7. Genetic variants influencing circulating lipid levels and risk of coronary artery disease. (PubMed id 20864672)1, 4 Waterworth D.M....Sandhu M.S. (2010)
    8. Excess of rare variants in genes identified by genome -wide association study of hypertriglyceridemia. (PubMed id 20657596)1, 4 Johansen C.T....Hegele R.A. (2010)
    9. Replication of recently described type 2 diabetes gen e variants in a South Indian population. (PubMed id 20580033)1, 4 Chidambaram M....Mohan V. (2010)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9031 HGNC: 961 AceView: BAZ1B Ensembl:ENSG00000009954 euGenes: HUgn9031
    ECgene: BAZ1B H-InvDB: BAZ1B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BAZ1B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BAZ1B gene:
    Search GeneIP for patents involving BAZ1B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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